Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States
Hoover-Fong, Julie E., Alade, Adekemi Y., Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Liu, Chengxin, McGready, John, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Schulze, Kerry J., Serna, Maria Elena, Smid, Cory J., Bober, Michael B.
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
Get full text
Journal Article
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A
Upadhyai, Priyanka, Radhakrishnan, Periyasamy, Guleria, Vishal S., Kausthubham, Neethukrishna, Nayak, Shalini S., Superti‐Furga, Andrea, Girisha, Katta M.
Published in Human mutation (01.08.2021)
Published in Human mutation (01.08.2021)
Get full text
Journal Article
Evaluation of Volumetric Bone Mineral Density, Bone Microarchitecture, and Bone Strength in Patients with Achondroplasia Caused by FGFR3 c.1138G > A Mutation
Liang, Hanting, Qi, Wenting, Jin, Chenxi, Pang, Qianqian, Liu, Wei, Jiang, Yan, Wang, Ou, Li, Mei, Xing, Xiaoping, Pan, Hui, Xia, Weibo
Published in Calcified tissue international (01.01.2023)
Published in Calcified tissue international (01.01.2023)
Get full text
Journal Article
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants
Liang, Hanting, Hou, Yanfang, Pang, Qianqian, Jiang, Yan, Wang, Ou, Li, Mei, Xing, Xiaoping, Zhu, Huijuan, Xia, Weibo
Published in Calcified tissue international (01.03.2022)
Published in Calcified tissue international (01.03.2022)
Get full text
Journal Article
Achondroplasia: Really rhizomelic?
Shelmerdine, Susan Cheng, Brittain, Helen, Arthurs, Owen J., Calder, Alistair D.
Published in American journal of medical genetics. Part A (01.08.2016)
Published in American journal of medical genetics. Part A (01.08.2016)
Get full text
Journal Article
Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies
Dakouane Giudicelli, Mbarka, Serazin, Valerie, Le Sciellour, Christelle Rouillac, Albert, Martine, Selva, Jacqueline, Giudicelli, Yves
Published in Fertility and sterility (01.06.2008)
Published in Fertility and sterility (01.06.2008)
Get full text
Journal Article
JOINT MOBILITY WITH PARTICULAR REFERENCE TO RACIAL VARIATION AND INHERITED CONNECTIVE TISSUE DISORDERS
WORDSWORTH, P., OGILVIE, D., SMITH, R., SYKES, B.
Published in Rheumatology (Oxford, England) (01.02.1987)
Published in Rheumatology (Oxford, England) (01.02.1987)
Get full text
Journal Article